Pulmonary hypertension associated with Parkes-Weber syndrome (a rare congenital arteriovenous malformation)

A 17-year-old patient with a diagnosis of Klippel–Trénaunay syndrome since birth – a diagnosis based on the findings of a large vascular malformation on his right leg, with progressive enlargement and the presence of multiple varicosities – was referred to the cardiology unit for evaluation of a heart murmur that had been identified since childhood.

On physical examination there was a holosystolic murmur at the tricuspid and mitral area, and displacement of the point of maximum apical impulse to the sixth intercostal space and anterior axillar line, hypertrophy of the right leg, with multiple varicosities of superficial veins. At interrogation, the patient denied dyspnea, precordial pain or syncope. The chest radiography showed cardiomegaly (Panel A1) and in the echocardiogram there was four-chamber dilation with preserved ejection fraction, moderate mitral, tricuspid and aortic regurgitation, and an estimated systolic pulmonary artery pressure (sPAP) of 61 mmHg (Panel A2). The lung scintigraphy was negative. The computed tomography (CT) scan showed enlarged subcutaneous soft tissue (Panel B1) and dilated arterial vessels (Panel B2). He underwent right leg arteriography (Panel C) which showed multiple high-flow arteriovenous fistulas in the anterior and posterior tibial arteries. With those findings the diagnosis was changed to Parkes-Weber syndrome with pulmonary hypertension due to high-flow arteriovenous fistulas. The patient rejected surgical treatment.

Panel A. Panel B. Panel C.

‘Images in vascular medicine’ is a regular feature of Vascular Medicine. Readers may submit original, unpublished images related to clinical vascular medicine. Submissions may be sent to: Heather Gornik, Editor in Chief, Vascular Medicine, via the web-based submission system at http://mc.manuscriptcentral.com/vascular-medicine